Susceptibility to Viral Infections
Gene: TBK1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary predisposition to infections, MONDO:0015979, TBK1-related
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
2 unrelated patients with herpes encephalitis. Extensive functional validation. Dominant negative inheritance.Created: 26 Oct 2022, 6:37 a.m. | Last Modified: 26 Oct 2022, 6:37 a.m.
Panel Version: 0.93
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Susceptibility to herpes encephalitis
Publications
Gene: tbk1 has been classified as Green List (High Evidence).
Phenotypes for gene: TBK1 were changed from to Hereditary predisposition to infections, MONDO:0015979, TBK1-related
Publications for gene: TBK1 were set to
Mode of pathogenicity for gene: TBK1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other
Mode of pathogenicity for gene: TBK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: TBK1 was added gene: TBK1 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TBK1 was set to Unknown